Results 51 to 60 of about 16,338 (222)

Mutant EXT1 in Taiwanese Patients with Multiple Hereditary Exostoses

BioMedicine, 2014
Multiple hereditary exostoses (MHE) is characterized by multiple benign projections of bone capped by cartilage, most numerous in metaphyses of long bones. HME are usually inherited in autosomal dominant mode, chief genes EXT1 and EXT2.Two MHE patients were identified from clinic and enrolled in genetic study, complete coding regions of EXT1 and EXT2 ...
Lin, Wei-De, Hwu, Wuh-Liang, Wang, Chung-Hsing, Tsai, Fuu-Jen   +3 more
openaire   +2 more sources

A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG [PDF]

Scientific Reports, 2014
Multiple osteochondromatosis (MO), or EXT1/EXT2-CDG, is an autosomal dominant O-linked glycosylation disorder characterized by the formation of multiple cartilage-capped tumors (osteochondromas). In contrast, solitary osteochondroma (SO) is a non-hereditary condition.
Delgado, M. A., Martinez-Domenech, G., Sarrión Pérez-Caballero, Patricia, Urreizti, Roser, Zecchini, L., Robledo, H. H., Segura, F., Dodelson de Kremer, Raquel, Balcells Comas, Susana, Grinberg Vaisman, Daniel Raúl, Asteggiano, Carla   +10 more
openaire   +6 more sources

Three Novel EXT1 and EXT2 Gene Mutations in Taiwanese Patients with Multiple Exostoses

Journal of the Formosan Medical Association, 2006
Multiple osteochondromatosis, also known as hereditary multiple exostoses (HME), is an inherited autoso-mal dominant disorder characterized by the presence of multiple exostoses on the long bones.
Wen-Chau Chen, Chih-Hsien Chi, Chia-Chang Chuang, l-Ming Jou   +3 more
doaj   +1 more source

Torsion free instanton sheaves on the blow-up of $\mathbb{P}^{3}$ at a point

, 2021
We consider an extension of the instanton bundles definition, given by Casnati-Coskun-Genk-Malaspina, for Fano threefolds, in order to include non locally-free ones on the blow-up $\widetilde{\mathbb{P}^{3}},$ of the projective $3-$space at a point. With
Henni, Abdelmoubine Amar
core  

WONOEP XVII appraisal: The role of the extracellular matrix in epilepsy

Epilepsia, EarlyView.
Abstract The extracellular matrix (ECM) is composed of proteoglycans and glycoproteins that regulate the external environment surrounding neurons, glia, and the vascular system. The ECM is vital for maintaining the structure and function of the brain and also acts as a reservoir for various signaling molecules and neurotransmitters, modulating synaptic
Eleonora Lugara, Erwin A. van Vliet, Alessia Romagnolo, Kevin Staley, Kyle P. Lillis, Chris Dulla, David C. Henshall, Katja Kobow   +7 more
wiley   +1 more source

Human Proteoglycan Linkage Region Glycosyltransferases are Dimeric and Show Unexpected Specificities

Angewandte Chemie, Volume 138, Issue 3, 16 January 2026.
Non‐canonical glycopeptides of the proteoglycan linkage region are accessible by the enzymes B3GalT6 and GlcAT‐1 confirming a recently discovered rescue mode in glycosaminoglycan (GAG) biosynthesis. The crystal structure of B3GalT6 revealed a covalent dimer linked by a disulfide. Abstract We selected the N,O‐glycosylated proteoglycan bikunin as a model
Sascha Weidler, Ole Bundgaard, Markus Hessefort, Marisa Rädisch, Christopher Günther Franz Graf, Kevin Lam, Vanessa J. Neubauer, Johanna Eisenreich, Leonhard Köhler, Kelley W. Moremen, Catharina Steentoft, Henrik Clausen, Teng‐Yi Huang, Shang‐Cheng Hung, Clemens Steegborn, Michael Weyand, Carlo Unverzagt   +16 more
wiley   +2 more sources

Hereditary Multiple Exostoses: Genetic, Radiologic, and Oncologic Insights from Twenty-one Patients

Acta Haematologica Oncologica Turcica
Aim: To characterize the clinical, radiological, and genetic features of genetically confirmed hereditary multiple exostoses (HME) in patients presenting with multiple exostoses and to contribute to the understanding of the phenotypic and genotypic ...
Abdulkerim Kolkıran, Melike Ataseven Kulalı, Tuğba Daşar, Firdevs Dinçsoy Bir, Ahmet Kablan, Şükriye Yılmaz, Alişan Daylak, Şule Yeşil, Gürses Şahin   +8 more
doaj   +1 more source

Higher rank sheaves on threefolds and functional equations

, 2019
We consider the moduli space of stable torsion free sheaves of any rank on a smooth projective threefold. The singularity set of a torsion free sheaf is the locus where the sheaf is not locally free. On a threefold it has dimension $\leq 1$.
Gholampour, Amin, Kool, Martijn
core   +1 more source

Understanding bidirectional and transactional relations in parent and offspring mental health: Using COVID‐19 pandemic data to gain insights

JCPP Advances, EarlyView.
This study found that parent internalising symptoms predicted internalising symptoms in younger children, with no evidence of child‐driven effects. Among adolescents, mental health symptoms showed bidirectional associations with parent internalising symptoms, particularly for externalising symptoms.
Martha Oakes, Lowrie Hilladakis, Polly Waite, Cathy Creswell, Simona Skripkauskaite   +4 more
wiley   +1 more source

Proteolytic remodelling of the extracellular matrix by pericytes

The FEBS Journal, EarlyView.
Pericytes are specialised perivascular cells intimately connected with endothelial cells and essential for the maintenance of vascular beds. They contribute to the formation and remodelling of the extracellular matrix by actively secreting proteases and protease inhibitors.
Tina Burkhard, Ella Milne, Kate Qian, Paola Campagnolo, Salvatore Santamaria   +4 more
wiley   +1 more source